7608[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 1235300	NM_006901.4(MYO9A):c.*144C>G	MYO9A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3356719	NM_006901.4(MYO9A):c.*4G>A	MYO9A	Single nucleotide variant (3 prime UTR variant)	MYO9A-related disorder	GLikely benign
Select item 2224080	NM_006901.4(MYO9A):c.7643T>A (p.Val2548Asp)	MYO9A (V2548D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297939	NM_006901.4(MYO9A):c.7570C>T (p.Arg2524Cys)	MYO9A (R2524C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166935	NM_006901.4(MYO9A):c.7567G>T (p.Gly2523Cys)	MYO9A (G2523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533295	NM_006901.4(MYO9A):c.7562T>G (p.Met2521Arg)	MYO9A (M2521R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241443	NM_006901.4(MYO9A):c.7547C>T (p.Pro2516Leu)	MYO9A (P2516L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630753	NM_006901.4(MYO9A):c.7530G>C (p.Gln2510His)	MYO9A (Q2510H)	Single nucleotide variant (missense variant)	MYO9A-related disorder	GUncertain significance
Select item 776922	NM_006901.4(MYO9A):c.7511A>C (p.Asn2504Thr)	MYO9A (N2504T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732280	NM_006901.4(MYO9A):c.7485G>A (p.Pro2495=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297953	NM_006901.4(MYO9A):c.7483C>A (p.Pro2495Thr)	MYO9A (P2495T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314923	NM_006901.4(MYO9A):c.7462A>G (p.Ile2488Val)	MYO9A (I2488V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166923	NM_006901.4(MYO9A):c.7453C>T (p.Pro2485Ser)	MYO9A (P2485S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256279	NM_006901.4(MYO9A):c.7450A>G (p.Lys2484Glu)	MYO9A (K2484E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532982	NM_006901.4(MYO9A):c.7382G>A (p.Arg2461Gln)	MYO9A (R2461Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396115	NM_006901.4(MYO9A):c.7322C>T (p.Thr2441Met)	MYO9A (T2441M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608207	NM_006901.4(MYO9A):c.7277T>C (p.Leu2426Ser)	MYO9A (L2426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485447	NM_006901.4(MYO9A):c.7274C>T (p.Ser2425Phe)	MYO9A (S2425F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253567	NM_006901.4(MYO9A):c.7245G>T (p.Leu2415Phe)	MYO9A (L2415F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580247	NM_006901.4(MYO9A):c.7224G>C (p.Lys2408Asn)	MYO9A (K2408N)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2433981	NM_006901.4(MYO9A):c.7216G>C (p.Ala2406Pro)	MYO9A (A2406P)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 3033672	NM_006901.4(MYO9A):c.7184-8dup	MYO9A	Duplication (intron variant)	MYO9A-related disorder	GLikely benign
Select item 1255328	NM_006901.4(MYO9A):c.7184-39G>A	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269225	NM_006901.4(MYO9A):c.7184-185G>A	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252587	NM_006901.4(MYO9A):c.7168A>G (p.Ile2390Val)	MYO9A (I2390V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 757414	NM_006901.4(MYO9A):c.7150A>G (p.Met2384Val)	MYO9A (M2384V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2215323	NM_006901.4(MYO9A):c.7079G>A (p.Arg2360His)	MYO9A (R2360H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166897	NM_006901.4(MYO9A):c.7075C>T (p.Pro2359Ser)	MYO9A (P2359S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510485	NM_006901.4(MYO9A):c.7063C>G (p.Leu2355Val)	MYO9A (L2355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046947	NM_006901.4(MYO9A):c.6999G>A (p.Glu2333=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder	GLikely benign
Select item 2493323	NM_006901.4(MYO9A):c.6982G>T (p.Ala2328Ser)	MYO9A (A2328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166892	NM_006901.4(MYO9A):c.6976C>G (p.Gln2326Glu)	MYO9A (Q2326E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048963	NM_006901.4(MYO9A):c.6939T>G (p.Ser2313Arg)	MYO9A (S2313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049468	NM_006901.4(MYO9A):c.6931T>G (p.Leu2311Val)	MYO9A (L2311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 734720	NM_006901.4(MYO9A):c.6918C>A (p.Val2306=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166883	NM_006901.4(MYO9A):c.6883C>A (p.Pro2295Thr)	MYO9A (P2295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730170	NM_006901.4(MYO9A):c.6879G>A (p.Ser2293=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398453	NM_006901.4(MYO9A):c.6874C>T (p.Pro2292Ser)	MYO9A (P2292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379890	NM_006901.4(MYO9A):c.6857G>A (p.Arg2286Gln)	MYO9A (R2286Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791639	NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His)	MYO9A (R2283H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 590978	NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu)	MYO9A (G2282E)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GConflicting classifications of pathogenicity
Select item 3297940	NM_006901.4(MYO9A):c.6830G>A (p.Arg2277Lys)	MYO9A (R2277K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717368	NM_006901.4(MYO9A):c.6774C>A (p.Ile2258=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297944	NM_006901.4(MYO9A):c.6761G>A (p.Arg2254His)	MYO9A (R2254H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1242339	NM_006901.4(MYO9A):c.6714-137_6714-133del	MYO9A	Deletion (intron variant)	not provided	GBenign
Select item 1266050	NM_006901.4(MYO9A):c.6714-336G>A	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279796	NM_006901.4(MYO9A):c.6713+322_6713+345del	MYO9A	Deletion (intron variant)	not provided	GBenign
Select item 1276554	NM_006901.4(MYO9A):c.6713+77_6713+96dup	MYO9A	Duplication (intron variant)	not provided	GBenign
Select item 3166875	NM_006901.4(MYO9A):c.6709A>G (p.Thr2237Ala)	MYO9A (T2237A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166871	NM_006901.4(MYO9A):c.6670A>G (p.Thr2224Ala)	MYO9A (T2224A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997446	NM_006901.4(MYO9A):c.6656G>A (p.Arg2219His)	MYO9A (R2219H)	Single nucleotide variant (missense variant)	Bronchiectasis	GUncertain significance
Select item 2355825	NM_006901.4(MYO9A):c.6620A>G (p.Asn2207Ser)	MYO9A (N2207S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282477	NM_006901.4(MYO9A):c.6582-33C>G	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 797720	NM_006901.4(MYO9A):c.6546C>T (p.Leu2182=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731843	NM_006901.4(MYO9A):c.6532T>A (p.Ser2178Thr)	MYO9A (S2178T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166864	NM_006901.4(MYO9A):c.6502C>T (p.Arg2168Cys)	MYO9A (R2168C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296516	NM_006901.4(MYO9A):c.6497C>A (p.Thr2166Lys)	MYO9A (T2166K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 871413	NM_006901.4(MYO9A):c.6476-7dup	MYO9A	Duplication (intron variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GUncertain significance
Select item 1269834	NM_006901.4(MYO9A):c.6476-156T>A	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786274	NM_006901.4(MYO9A):c.6454G>A (p.Glu2152Lys)	MYO9A (E2152K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 714003	NM_006901.4(MYO9A):c.6426C>G (p.Pro2142=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2580246	NM_006901.4(MYO9A):c.6419A>G (p.Asp2140Gly)	MYO9A (D2140G)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2664910	NM_006901.4(MYO9A):c.6416G>A (p.Arg2139Gln)	MYO9A (R2139Q)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GUncertain significance
Select item 2360296	NM_006901.4(MYO9A):c.6385G>A (p.Val2129Ile)	MYO9A (V2129I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752280	NM_006901.4(MYO9A):c.6375T>C (p.Tyr2125=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297954	NM_006901.4(MYO9A):c.6374A>G (p.Tyr2125Cys)	MYO9A (Y2125C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1280210	NM_006901.4(MYO9A):c.6347-96T>G	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261708	NM_006901.4(MYO9A):c.6347-120dup	MYO9A	Duplication (intron variant)	not provided	GBenign
Select item 1294872	NM_006901.4(MYO9A):c.6347-103del	MYO9A	Deletion (intron variant)	not provided	GBenign
Select item 711157	NM_006901.4(MYO9A):c.6336T>A (p.Gly2112=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745075	NM_006901.4(MYO9A):c.6330G>A (p.Arg2110=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362043	NM_006901.4(MYO9A):c.6328C>T (p.Arg2110Trp)	MYO9A (R2110W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807280	NM_006901.4(MYO9A):c.6271C>T (p.Leu2091=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2536513	NM_006901.4(MYO9A):c.6248T>C (p.Ile2083Thr)	MYO9A (I2083T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605729	NM_006901.4(MYO9A):c.6227C>T (p.Pro2076Leu)	MYO9A (P2076L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231229	NM_006901.4(MYO9A):c.6220A>T (p.Thr2074Ser)	MYO9A (T2074S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600597	NM_006901.4(MYO9A):c.6176G>A (p.Arg2059Gln)	MYO9A (R2059Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1182439	NM_006901.4(MYO9A):c.6154-5T>A	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282564	NM_006901.4(MYO9A):c.6092-88del	MYO9A	Deletion (intron variant)	not provided	GBenign
Select item 2605465	NM_006901.4(MYO9A):c.6028C>T (p.Pro2010Ser)	MYO9A (P2010S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753400	NM_006901.4(MYO9A):c.6018A>G (p.Gln2006=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297950	NM_006901.4(MYO9A):c.6010G>A (p.Ala2004Thr)	MYO9A (A2004T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282178	NM_006901.4(MYO9A):c.5980-116C>T	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287273	NM_006901.4(MYO9A):c.5980-334dup	MYO9A	Duplication (intron variant)	not provided	GBenign
Select item 1295107	NM_006901.4(MYO9A):c.5980-319del	MYO9A	Deletion (intron variant)	not provided	GBenign
Select item 766714	NM_006901.4(MYO9A):c.5979+9T>C	MYO9A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3297941	NM_006901.4(MYO9A):c.5947A>G (p.Arg1983Gly)	MYO9A (R1983G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707289	NM_006901.4(MYO9A):c.5912C>T (p.Ser1971Leu)	MYO9A (S1971L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2276846	NM_006901.4(MYO9A):c.5900A>G (p.Glu1967Gly)	MYO9A (E1967G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166832	NM_006901.4(MYO9A):c.5899G>A (p.Glu1967Lys)	MYO9A (E1967K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522074	NM_006901.4(MYO9A):c.5861T>G (p.Val1954Gly)	MYO9A (V1954G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 796851	NM_006901.4(MYO9A):c.5834T>C (p.Leu1945Pro)	MYO9A (L1945P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1031104	NM_006901.4(MYO9A):c.5807C>T (p.Thr1936Met)	MYO9A (T1936M)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2544212	NM_006901.4(MYO9A):c.5794A>G (p.Ile1932Val)	MYO9A (I1932V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297943	NM_006901.4(MYO9A):c.5757C>G (p.Ser1919Arg)	MYO9A (S1919R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 759413	NM_006901.4(MYO9A):c.5757C>T (p.Ser1919=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1282165	NM_006901.4(MYO9A):c.5740-27A>G	MYO9A	Single nucleotide variant (intron variant)	not provided	GBenign

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